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Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency.
[classical phenylketonuria]
Tetrahydrobiopterin
(
BH
(
4
)
)
deficiency
is
an
autosomal
recessive
disorder
caused
by
enzyme
defects
in
the
biosynthesis
or
recycling
of
BH
(
4
)
.
Patients
with
BH
(
4
)
deficiency
present
with
severe
neurological
signs
and
symptoms
and
require
a
different
treatment
from
classical
phenylketonuria
.
During
the
last
12
years
,
31
cases
of
BH
(
4
)
deficiency
were
identified
in
our
department
.
They
were
all
classified
as
6
-
pyruvoyl-tetrahydropterin
synthase
(
PTPS
)
deficiency
.
They
were
diagnosed
at
the
ages
of
2
.
5
-
48
months
and
treated
with
BH
(
4
)
,
L-
dopa
and
5
-
hydroxytryptophan
immediately
after
diagnosis
.
The
average
development
quotients
(
DQ
)
at
diagnosis
and
after
treatment
for
more
than
3
years
were
53
+
/
-
16
,
and
78
+
/
-
15
,
respectively
.
A
significant
negative
correlation
was
observed
between
the
level
of
the
DQ
and
the
age
at
which
treatment
was
commenced
(
r
=
-
0
.
751
,
p
=
0
.
002
)
.
Developmental
profiles
were
uneven
.
Language
,
adaptability
and
at
later
age
mathematics
were
particularly
weak
areas
.
Only
two
patients
achieved
a
good
performance
in
mathematics
.
Eleven
patients
who
were
treated
with
drugs
from
ages
of
2
.
9
-
48
months
had
neuroradiological
scanning
.
Computed
tomography
disclosed
calcification
in
lentiform
nuclei
in
one
patient
and
magnetic
resonance
imaging
disclosed
delayed
myelination
and
abnormal
high
intensity
signal
in
cerebral
white
matter
in
all
of
them
.
Even
though
most
of
abnormalities
were
reversible
,
small
patchy
or
spotted
areas
were
still
present
on
these
regions
after
treatment
for
10
-
46
months
.
In
summary
,
our
study
supports
the
substantial
efficacy
of
the
current
therapeutic
approach
in
PTPS
deficiency
of
normalizing
amine
neurotransmitters
with
three
drugs
as
early
as
possible
.
For
the
first
time
,
calcifications
could
be
detected
in
patients
with
PTPS
deficiency
.
Abnormalities
in
white
matter
on
magnetic
resonance
imaging
were
not
related
to
clinical
manifestations
and
most
were
reversible
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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